K31E (p.Lys31Glu) variant of FANCA (Fanconi anemia group A protein)
K31E (p.Lys31Glu) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
K31E (p.Lys31Glu) variant details
- p.Lys31Glu
- Ensembl rs2041101553
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.10
- AlphaMissense 0.15
- MetaLR 0.27
- MetaSVM -0.88
- CADD 13.80
- PolyPhen-2 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available