A11S (p.Ala11Ser) variant of PTH1R (Q03431)
A11S (p.Ala11Ser) in PTH1R (Q03431) 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.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- gnomAD 3-46883590-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.04
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.19
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available