N36K (p.Asn36Lys) variant of FANCA (Fanconi anemia group A protein)
N36K (p.Asn36Lys) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
N36K (p.Asn36Lys) variant details
- p.Asn36Lys
- TOPMed rs1326495878
- gnomAD rs1326495878
- Missense
- Variant Prioritization Score for Impact Estimate 0.049
- REVEL 0.03
- CADD 0.04
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available