L109V (p.Leu109Val) variant of FSHR (P23945)
L109V (p.Leu109Val) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L109V (p.Leu109Val) variant details
- p.Leu109Val
- 1000Genomes rs138344938
- ExAC rs138344938
- TOPMed rs138344938
- gnomAD rs138344938
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.11
- MetaLR 0.13
- MetaSVM -0.99
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available