G143D (p.Gly143Asp) variant of FERMT1 (Fermitin family homolog 1)
G143D (p.Gly143Asp) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G143D (p.Gly143Asp) variant details
- p.Gly143Asp
- Ensembl rs1017159941
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.05
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available