F53S (p.Phe53Ser) variant of FSHR (P23945)
F53S (p.Phe53Ser) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
F53S (p.Phe53Ser) variant details
- p.Phe53Ser
- ExAC rs759354921
- TOPMed rs759354921
- gnomAD rs759354921
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.85
- MetaLR 0.66
- MetaSVM 0.33
- CADD 28.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available