E8A (p.Glu8Ala) variant of AGTR1 (Type-1 angiotensin II receptor)
E8A (p.Glu8Ala) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E8A (p.Glu8Ala) variant details
- p.Glu8Ala
- gnomAD rs1714843147
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.06
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available