A44V (p.Ala44Val) variant of PTH1R (Q03431)
A44V (p.Ala44Val) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- gnomAD 3-46893962-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.46
- CADD 26.30
- PolyPhen-2 0.97
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available