R52K (p.Arg52Lys) variant of FSHR (P23945)
R52K (p.Arg52Lys) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R52K (p.Arg52Lys) variant details
- p.Arg52Lys
- gnomAD rs1359315892
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.53
- MetaLR 0.61
- MetaSVM 0.14
- CADD 22.50
- PolyPhen-2 0.18
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available