A4S (p.Ala4Ser) variant of PTH1R (Q03431)
A4S (p.Ala4Ser) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 3-46883569-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.04
- CADD 21.70
- PolyPhen-2 0.07
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available