V18A (p.Val18Ala) variant of FERMT1 (Fermitin family homolog 1)
V18A (p.Val18Ala) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V18A (p.Val18Ala) variant details
- p.Val18Ala
- TOPMed rs1011251708
- gnomAD rs1011251708
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.34
- CADD 22.10
- PolyPhen-2 0.41
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available