P64S (p.Pro64Ser) variant of CRX (Cone-rod homeobox protein)
P64S (p.Pro64Ser) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P64S (p.Pro64Ser) variant details
- p.Pro64Ser
- gnomAD 19-47836332-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.95
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available