V20A (p.Val20Ala) variant of RHO (Rhodopsin)
V20A (p.Val20Ala) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- ExAC rs746210043
- TOPMed rs746210043
- gnomAD rs746210043
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.75
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available