W69R (p.Trp69Arg) variant of FERMT1 (Fermitin family homolog 1)
W69R (p.Trp69Arg) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
W69R (p.Trp69Arg) variant details
- p.Trp69Arg
- Ensembl rs1983087104
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.75
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available