P116T (p.Pro116Thr) variant of LHCGR (P22888)
P116T (p.Pro116Thr) 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 0.30 / 1. The record also includes population frequency data and structural context.
P116T (p.Pro116Thr) variant details
- p.Pro116Thr
- rs377265035
- ESP rs377265035
- ExAC rs377265035
- TOPMed rs377265035
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.34
- CADD 13.80
- PolyPhen-2 0.09
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available