A15V (p.Ala15Val) variant of CRX (Cone-rod homeobox protein)
A15V (p.Ala15Val) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- gnomAD rs1318083411
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.28
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.774