K42N (p.Lys42Asn) variant of FANCA (Fanconi anemia group A protein)
K42N (p.Lys42Asn) 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.
K42N (p.Lys42Asn) variant details
- p.Lys42Asn
- ExAC rs756432890
- gnomAD rs756432890
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.01
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available