Y113N (p.Tyr113Asn) variant of LHCGR (P22888)
Y113N (p.Tyr113Asn) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Leydig cell agenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Y113N (p.Tyr113Asn) variant details
- p.Tyr113Asn
- rs140691492
- ClinGen CA1653360
- cosmic curated COSV10609
- ClinVar RCV000271704
- Conflicting interpretations
- not provided; not specified; Leydig cell agenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.25
- CADD 1.45
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Leydig cell agenesis)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available