A24V (p.Ala24Val) variant of PTH1R (Q03431)
A24V (p.Ala24Val) 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 and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- gnomAD rs1305304363
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.05
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available