R28S (p.Arg28Ser) variant of FSHR (P23945)
R28S (p.Arg28Ser) in FSHR (P23945) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
R28S (p.Arg28Ser) variant details
- p.Arg28Ser
- cosmic curated COSV58629
- 1000Genomes rs190096402
- ExAC rs190096402
- TOPMed rs190096402
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.47
- MetaLR 0.82
- MetaSVM 0.30
- CADD 16.30
- PolyPhen-2 0.12
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:JAPANESE population (allele frequency 0.036)
- Structural context available