I49V (p.Ile49Val) variant of FSHR (P23945)
I49V (p.Ile49Val) 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.
I49V (p.Ile49Val) variant details
- p.Ile49Val
- TOPMed rs1014049192
- gnomAD rs1014049192
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.15
- MetaLR 0.14
- MetaSVM -0.91
- CADD 4.23
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available