A11P (p.Ala11Pro) variant of PTH1R (Q03431)
A11P (p.Ala11Pro) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A11P (p.Ala11Pro) variant details
- p.Ala11Pro
- gnomAD 3-46883590-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.14
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available