L34S (p.Leu34Ser) variant of AGTR1 (Type-1 angiotensin II receptor)
L34S (p.Leu34Ser) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L34S (p.Leu34Ser) variant details
- p.Leu34Ser
- gnomAD 3-148741136-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.25
- CADD 24.20
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Literature evidence available