I38V (p.Ile38Val) variant of PTH1R (Q03431)
I38V (p.Ile38Val) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I38V (p.Ile38Val) variant details
- p.Ile38Val
- gnomAD 3-46893943-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.22
- CADD 26.20
- PolyPhen-2 0.69
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available