V61A (p.Val61Ala) variant of RHO (Rhodopsin)
V61A (p.Val61Ala) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V61A (p.Val61Ala) variant details
- p.Val61Ala
- gnomAD rs1427114435
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.50
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.12
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available