R28M (p.Arg28Met) variant of FSHR (P23945)
R28M (p.Arg28Met) 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 0.48 / 1. The record also includes population frequency data and structural context.
R28M (p.Arg28Met) variant details
- p.Arg28Met
- rs1271382357
- NCI-TCGA Cosmic COSV5862
- cosmic curated COSV58624
- gnomAD rs1271382357
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.49
- MetaLR 0.90
- MetaSVM 0.56
- CADD 17.50
- PolyPhen-2 0.02
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.5e-05)
- Structural context available