S13C (p.Ser13Cys) variant of FSHR (P23945)
S13C (p.Ser13Cys) 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 0.33 / 1. The record also includes population frequency data and structural context.
S13C (p.Ser13Cys) variant details
- p.Ser13Cys
- rs1476467611
- NCI-TCGA Cosmic COSV5862
- cosmic curated COSV58622
- gnomAD rs1476467611
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.10
- MetaLR 0.28
- MetaSVM -0.71
- CADD 21.90
- PolyPhen-2 0.62
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available