A84T (p.Ala84Thr) variant of FERMT1 (Fermitin family homolog 1)
A84T (p.Ala84Thr) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A84T (p.Ala84Thr) variant details
- p.Ala84Thr
- 1000Genomes rs188529776
- ExAC rs188529776
- gnomAD rs188529776
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.39
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available