D123G (p.Asp123Gly) variant of FERMT1 (Fermitin family homolog 1)
D123G (p.Asp123Gly) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D123G (p.Asp123Gly) variant details
- p.Asp123Gly
- gnomAD rs1349852986
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.18
- CADD 24.50
- PolyPhen-2 0.79
- SIFT 0.36
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available