V47A (p.Val47Ala) variant of FERMT1 (Fermitin family homolog 1)
V47A (p.Val47Ala) 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 0.58 / 1. The record also includes population frequency data and structural context.
V47A (p.Val47Ala) variant details
- p.Val47Ala
- rs1568667079
- ClinGen CA408194840
- ClinVar RCV002023340
- Ensembl rs1568667079
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.60
- CADD 28.40
- PolyPhen-2 0.51
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available