N47K (p.Asn47Lys) variant of FSHR (P23945)
N47K (p.Asn47Lys) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N47K (p.Asn47Lys) variant details
- p.Asn47Lys
- ExAC rs767532725
- gnomAD rs767532725
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.48
- MetaLR 0.47
- MetaSVM -0.24
- CADD 13.90
- PolyPhen-2 0.35
- SIFT 0.09
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available