V62A (p.Val62Ala) variant of AGTR1 (Type-1 angiotensin II receptor)
V62A (p.Val62Ala) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
V62A (p.Val62Ala) variant details
- p.Val62Ala
- rs1241893519
- TOPMed rs1241893519
- gnomAD rs1241893519
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.41
- CADD 25.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available