H10R (p.His10Arg) variant of CRX (Cone-rod homeobox protein)
H10R (p.His10Arg) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Usher syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H10R (p.His10Arg) variant details
- p.His10Arg
- rs754630141
- ClinGen CA9544369
- ClinVar RCV001260906
- ExAC rs754630141
- Uncertain significance
- Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.30
- CADD 16.10
- PolyPhen-2 0.06
- SIFT 0.39
- ClinVar: Uncertain significance (Usher syndrome)
- EBI: Variant of uncertain significance (in dbSNP:rs139340178)
- UniProt: Uncertain significance (in dbSNP:rs139340178)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.642