T8A (p.Thr8Ala) variant of FERMT1 (Fermitin family homolog 1)
T8A (p.Thr8Ala) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
T8A (p.Thr8Ala) variant details
- p.Thr8Ala
- rs776284106
- ClinGen CA9758568
- ClinVar RCV001947397
- ExAC rs776284106
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.03
- CADD 5.05
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available