V26G (p.Val26Gly) variant of PTH1R (Q03431)
V26G (p.Val26Gly) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V26G (p.Val26Gly) variant details
- p.Val26Gly
- cosmic curated COSV10642
- ExAC rs201200407
- gnomAD rs201200407
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.38
- CADD 33.00
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.011)
- Structural context available