A44G (p.Ala44Gly) variant of PTH1R (Q03431)
A44G (p.Ala44Gly) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A44G (p.Ala44Gly) variant details
- p.Ala44Gly
- gnomAD rs2031582004
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.50
- CADD 26.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available