A28V (p.Ala28Val) variant of LHCGR (P22888)
A28V (p.Ala28Val) 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 0.22 / 1. The record also includes population frequency data and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs1352747382
- NCI-TCGA Cosmic COSV5430
- cosmic curated COSV54301
- TOPMed rs1352747382
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.17
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.51
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available