S13R (p.Ser13Arg) variant of FSHR (P23945)
S13R (p.Ser13Arg) 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 0.20 / 1. The record also includes population frequency data and structural context.
S13R (p.Ser13Arg) variant details
- p.Ser13Arg
- NCI-TCGA Cosmic COSV5862
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.09
- MetaLR 0.25
- MetaSVM -0.79
- CADD 15.60
- PolyPhen-2 0.23
- SIFT 0.44
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available