S15N (p.Ser15Asn) variant of FANCD2 (Fanconi anemia group D2 protein)
S15N (p.Ser15Asn) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S15N (p.Ser15Asn) variant details
- p.Ser15Asn
- Ensembl rs2086517762
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- AlphaMissense 0.06
- MetaLR 0.07
- MetaSVM -1.02
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available