A11V (p.Ala11Val) variant of PTH1R (Q03431)
A11V (p.Ala11Val) 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 and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- gnomAD rs1182088526
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.11
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available