A44S (p.Ala44Ser) variant of PTH1R (Q03431)
A44S (p.Ala44Ser) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A44S (p.Ala44Ser) variant details
- p.Ala44Ser
- gnomAD rs1658380264
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.42
- CADD 26.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available