P9H (p.Pro9His) variant of CRX (Cone-rod homeobox protein)
P9H (p.Pro9His) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P9H (p.Pro9His) variant details
- p.Pro9His
- cosmic curated COSV99704
- ExAC rs766003111
- gnomAD rs766003111
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.58
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- CRX Homeobox domain domainome 1.0: score 0.0187