L31V (p.Leu31Val) variant of FSHR (P23945)
L31V (p.Leu31Val) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- TOPMed rs1673168332
- gnomAD rs1673168332
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.39
- MetaLR 0.80
- MetaSVM 0.43
- CADD 19.60
- SIFT 0.57
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available