D27V (p.Asp27Val) variant of PTH1R (Q03431)
D27V (p.Asp27Val) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D27V (p.Asp27Val) variant details
- p.Asp27Val
- ExAC rs79218323
- gnomAD rs79218323
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.40
- CADD 29.80
- PolyPhen-2 0.85
- SIFT 0.00
- Population evidence available
- Structural context available