P64A (p.Pro64Ala) variant of CRX (Cone-rod homeobox protein)
P64A (p.Pro64Ala) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
P64A (p.Pro64Ala) variant details
- p.Pro64Ala
- gnomAD rs1368658678
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.95
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available