A11E (p.Ala11Glu) variant of PTH1R (Q03431)
A11E (p.Ala11Glu) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A11E (p.Ala11Glu) variant details
- p.Ala11Glu
- cosmic curated COSV57314
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.15
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available