G15V (p.Gly15Val) variant of FSHR (P23945)
G15V (p.Gly15Val) 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 0.45 / 1. The record also includes population frequency data and structural context.
G15V (p.Gly15Val) variant details
- p.Gly15Val
- gnomAD rs1474692061
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.45
- MetaLR 0.49
- MetaSVM -0.15
- CADD 23.00
- PolyPhen-2 0.84
- SIFT 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available