V31F (p.Val31Phe) variant of PTH1R (Q03431)
V31F (p.Val31Phe) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V31F (p.Val31Phe) variant details
- p.Val31Phe
- gnomAD 3-46893922-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.32
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available