D65H (p.Asp65His) variant of CRX (Cone-rod homeobox protein)
D65H (p.Asp65His) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
D65H (p.Asp65His) variant details
- p.Asp65His
- rs527236062
- ClinGen CA270027
- ClinVar RCV000132604
- ClinVar RCV003888547
- Likely pathogenic
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.97
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Retinal dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)