K44N (p.Lys44Asn) variant of FANCA (Fanconi anemia group A protein)
K44N (p.Lys44Asn) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K44N (p.Lys44Asn) variant details
- p.Lys44Asn
- cosmic curated COSV10654
- 1000Genomes rs200428379
- ExAC rs200428379
- TOPMed rs200428379
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.04
- CADD 18.60
- PolyPhen-2 0.12
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available