D29V (p.Asp29Val) variant of PTH1R (Q03431)
D29V (p.Asp29Val) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D29V (p.Asp29Val) variant details
- p.Asp29Val
- gnomAD 3-46893917-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.69
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available