Q41H (p.Gln41His) variant of FANCA (Fanconi anemia group A protein)
Q41H (p.Gln41His) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
Q41H (p.Gln41His) variant details
- p.Gln41His
- NCI-TCGA Cosmic COSV1012
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.04
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available