S21Y (p.Ser21Tyr) variant of PTH1R (Q03431)
S21Y (p.Ser21Tyr) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S21Y (p.Ser21Tyr) variant details
- p.Ser21Tyr
- gnomAD rs1334383998
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.13
- CADD 22.20
- PolyPhen-2 0.03
- SIFT 0.27
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available