V49A (p.Val49Ala) variant of AGTR1 (Type-1 angiotensin II receptor)
V49A (p.Val49Ala) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
V49A (p.Val49Ala) variant details
- p.Val49Ala
- ExAC rs764573066
- gnomAD rs764573066
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.92
- CADD 25.60
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available