H10D (p.His10Asp) variant of CRX (Cone-rod homeobox protein)
H10D (p.His10Asp) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinal dystrophy; Leber congenital amaurosis 7; Cone-rod dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H10D (p.His10Asp) variant details
- p.His10Asp
- rs139340178
- ClinGen CA9544368
- ClinVar RCV000280624
- ClinVar RCV000401704
- Conflicting interpretations
- Retinal dystrophy; Leber congenital amaurosis 7; Cone-rod dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.49
- CADD 22.70
- PolyPhen-2 0.70
- SIFT 0.62
- ClinVar: Conflicting classifications of pathogenicity (Retinal dystrophy; Leber congenital amaurosis 7; Cone-rod dystro)
- EBI: Likely benign (in dbSNP:rs139340178)
- UniProt: Likely benign (in dbSNP:rs139340178)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.642
- Cited in: Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. (PMID 11139241)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)