L94I (p.Leu94Ile) variant of FSHR (P23945)
L94I (p.Leu94Ile) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L94I (p.Leu94Ile) variant details
- p.Leu94Ile
- Ensembl rs2104219832
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.61
- MetaLR 0.75
- MetaSVM 0.52
- CADD 24.90
- PolyPhen-2 0.96
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available