K31N (p.Lys31Asn) variant of FANCD2 (Fanconi anemia group D2 protein)
K31N (p.Lys31Asn) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K31N (p.Lys31Asn) variant details
- p.Lys31Asn
- TOPMed rs2086636498
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 22.30
- PolyPhen-2 0.79
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available