A24S (p.Ala24Ser) variant of PTH1R (Q03431)
A24S (p.Ala24Ser) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A24S (p.Ala24Ser) variant details
- p.Ala24Ser
- gnomAD 3-46883629-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.06
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available