V60I (p.Val60Ile) variant of FSHR (P23945)
V60I (p.Val60Ile) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V60I (p.Val60Ile) variant details
- p.Val60Ile
- ESP rs370447252
- ExAC rs370447252
- gnomAD rs370447252
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.37
- MetaLR 0.48
- MetaSVM -0.18
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available