C16S (p.Cys16Ser) variant of PTH1R (Q03431)
C16S (p.Cys16Ser) 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.
C16S (p.Cys16Ser) variant details
- p.Cys16Ser
- gnomAD 3-46883605-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.21
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available