I51K (p.Ile51Lys) variant of AGTR1 (Type-1 angiotensin II receptor)
I51K (p.Ile51Lys) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I51K (p.Ile51Lys) variant details
- p.Ile51Lys
- gnomAD 3-148741187-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.24
- CADD 23.60
- PolyPhen-2 0.76
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available