I114V (p.Ile114Val) variant of LHCGR (P22888)
I114V (p.Ile114Val) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
I114V (p.Ile114Val) variant details
- p.Ile114Val
- ExAC rs745692187
- gnomAD rs745692187
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.58
- CADD 23.70
- PolyPhen-2 0.13
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available