L3V (p.Leu3Val) variant of FSHR (P23945)
L3V (p.Leu3Val) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- ESP rs371608596
- gnomAD rs371608596
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.11
- MetaLR 0.31
- MetaSVM -0.73
- CADD 9.39
- PolyPhen-2 0.13
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available