Y113C (p.Tyr113Cys) variant of LHCGR (P22888)
Y113C (p.Tyr113Cys) in LHCGR (P22888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Y113C (p.Tyr113Cys) variant details
- p.Tyr113Cys
- ESP rs370920511
- ExAC rs370920511
- TOPMed rs370920511
- gnomAD rs370920511
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.42
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available