L9V (p.Leu9Val) variant of FSHR (P23945)
L9V (p.Leu9Val) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- 1000Genomes rs533522852
- ExAC rs533522852
- TOPMed rs533522852
- gnomAD rs533522852
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.06
- MetaLR 0.19
- MetaSVM -0.96
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available