G15C (p.Gly15Cys) variant of FSHR (P23945)
G15C (p.Gly15Cys) 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 0.38 / 1. The record also includes population frequency data and structural context.
G15C (p.Gly15Cys) variant details
- p.Gly15Cys
- rs1185063342
- ClinGen CA346817791
- ClinVar RCV002289092
- gnomAD rs1185063342
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.37
- MetaLR 0.35
- MetaSVM -0.51
- CADD 20.00
- PolyPhen-2 0.95
- SIFT 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available