E38K (p.Glu38Lys) variant of FANCA (Fanconi anemia group A protein)
E38K (p.Glu38Lys) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- NCI-TCGA Cosmic COSV6687
- cosmic curated COSV66879
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.06
- CADD 18.00
- PolyPhen-2 0.27
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available