Y113H (p.Tyr113His) variant of LHCGR (P22888)
Y113H (p.Tyr113His) in LHCGR (P22888) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Y113H (p.Tyr113His) variant details
- p.Tyr113His
- ESP rs140691492
- ExAC rs140691492
- TOPMed rs140691492
- gnomAD rs140691492
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.17
- AlphaMissense 0.61
- MetaLR 0.30
- MetaSVM -0.64
- CADD 0.32
- PolyPhen-2 1.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available