S6L (p.Ser6Leu) variant of LHCGR (P22888)
S6L (p.Ser6Leu) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
S6L (p.Ser6Leu) variant details
- p.Ser6Leu
- rs1558913953
- ClinGen CA346815673
- cosmic curated COSV54298
- ClinVar RCV003851349
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0954
- REVEL 0.09
- CADD 7.00
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available