I49T (p.Ile49Thr) variant of FSHR (P23945)
I49T (p.Ile49Thr) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I49T (p.Ile49Thr) variant details
- p.Ile49Thr
- ExAC rs751588754
- TOPMed rs751588754
- gnomAD rs751588754
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.21
- MetaLR 0.15
- MetaSVM -0.77
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available