A68V (p.Ala68Val) variant of LHCGR (P22888)
A68V (p.Ala68Val) in LHCGR (P22888) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- rs944199288
- NCI-TCGA Cosmic COSV5429
- cosmic curated COSV54291
- TOPMed rs944199288
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.66
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available