V31V (p.Val31Val) variant of PTH1R (Q03431)
V31V (p.Val31Val) in PTH1R (Q03431) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V31V (p.Val31Val) variant details
- p.Val31Val
- rs1016653806
- gnomAD 3-46893924-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 14.40
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available