S20N (p.Ser20Asn) variant of PTH1R (Q03431)
S20N (p.Ser20Asn) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S20N (p.Ser20Asn) variant details
- p.Ser20Asn
- gnomAD 3-46883618-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.04
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available