H20Q (p.His20Gln) variant of FERMT1 (Fermitin family homolog 1)
H20Q (p.His20Gln) 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 0.15 / 1. The record also includes population frequency data and structural context.
H20Q (p.His20Gln) variant details
- p.His20Gln
- rs1983205071
- ClinGen CA408195436
- ClinVar RCV003327989
- TOPMed rs1983205071
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.06
- CADD 7.89
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available