V13L (p.Val13Leu) variant of CRX (Cone-rod homeobox protein)
V13L (p.Val13Leu) 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 not specified; Leber congenital amaurosis 7; Cone-rod dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- rs752458888
- ClinGen CA9544371
- ClinVar RCV003804293
- ClinVar RCV005435308
- Conflicting interpretations
- not specified; Leber congenital amaurosis 7; Cone-rod dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.28
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not specified; Leber congenital amaurosis 7; Cone-rod dystrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.119
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)