V30A (p.Val30Ala) variant of CRX (Cone-rod homeobox protein)
V30A (p.Val30Ala) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V30A (p.Val30Ala) variant details
- p.Val30Ala
- gnomAD 19-47834532-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.55
- CADD 22.10
- PolyPhen-2 0.40
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available