S7P (p.Ser7Pro) variant of FSHR (P23945)
S7P (p.Ser7Pro) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S7P (p.Ser7Pro) variant details
- p.Ser7Pro
- ESP rs146918036
- ExAC rs146918036
- gnomAD rs146918036
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.15
- MetaLR 0.23
- MetaSVM -0.92
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available