L71P (p.Leu71Pro) variant of FERMT1 (Fermitin family homolog 1)
L71P (p.Leu71Pro) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L71P (p.Leu71Pro) variant details
- p.Leu71Pro
- TOPMed rs1186917419
- gnomAD rs1186917419
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.66
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available