Y110H (p.Tyr110His) variant of FSHR (P23945)
Y110H (p.Tyr110His) in FSHR (P23945) 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.
Y110H (p.Tyr110His) variant details
- p.Tyr110His
- rs771137333
- NCI-TCGA Cosmic COSV5862
- cosmic curated COSV58623
- ExAC rs771137333
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -1.05
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.51
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available