R21W (p.Arg21Trp) variant of FSHR (P23945)
R21W (p.Arg21Trp) 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 0.42 / 1. The record also includes population frequency data and structural context.
R21W (p.Arg21Trp) variant details
- p.Arg21Trp
- rs769728050
- NCI-TCGA Cosmic COSV5862
- cosmic curated COSV58622
- ExAC rs769728050
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.31
- MetaLR 0.66
- MetaSVM -0.18
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available