I14S (p.Ile14Ser) variant of AGTR1 (Type-1 angiotensin II receptor)
I14S (p.Ile14Ser) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I14S (p.Ile14Ser) variant details
- p.Ile14Ser
- gnomAD 3-148741076-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.15
- CADD 22.10
- PolyPhen-2 0.04
- SIFT 0.19
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available