K57N (p.Lys57Asn) variant of FSHR (P23945)
K57N (p.Lys57Asn) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
K57N (p.Lys57Asn) variant details
- p.Lys57Asn
- ExAC rs776243997
- TOPMed rs776243997
- gnomAD rs776243997
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.36
- MetaLR 0.51
- MetaSVM -0.20
- CADD 22.50
- PolyPhen-2 0.66
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available