V54I (p.Val54Ile) variant of FSHR (P23945)
V54I (p.Val54Ile) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V54I (p.Val54Ile) variant details
- p.Val54Ile
- TOPMed rs1415490382
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.41
- MetaLR 0.57
- MetaSVM 0.02
- CADD 20.40
- PolyPhen-2 0.25
- SIFT 0.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available