S21C (p.Ser21Cys) variant of PTH1R (Q03431)
S21C (p.Ser21Cys) 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.
S21C (p.Ser21Cys) variant details
- p.Ser21Cys
- gnomAD 3-46883621-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.12
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available