A4V (p.Ala4Val) variant of PTH1R (Q03431)
A4V (p.Ala4Val) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- cosmic curated COSV57318
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.05
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available