P41A (p.Pro41Ala) variant of FSHR (P23945)
P41A (p.Pro41Ala) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
P41A (p.Pro41Ala) variant details
- p.Pro41Ala
- TOPMed rs1335607309
- gnomAD rs1335607309
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.86
- MetaLR 0.99
- MetaSVM 1.00
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available