R41P (p.Arg41Pro) variant of CRX (Cone-rod homeobox protein)
R41P (p.Arg41Pro) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R41P (p.Arg41Pro) variant details
- p.Arg41Pro
- gnomAD 19-47836264-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.98
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.156
- Literature evidence available