V31I (p.Val31Ile) variant of PTH1R (Q03431)
V31I (p.Val31Ile) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V31I (p.Val31Ile) variant details
- p.Val31Ile
- cosmic curated COSV10517
- ExAC rs748205910
- TOPMed rs748205910
- gnomAD rs748205910
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.18
- CADD 23.50
- PolyPhen-2 0.36
- SIFT 0.06
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available