A49V (p.Ala49Val) variant of LHCGR (P22888)
A49V (p.Ala49Val) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- Ensembl rs1670167663
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.12
- CADD 15.20
- PolyPhen-2 0.26
- SIFT 0.21
- Population evidence available
- Structural context available