S15G (p.Ser15Gly) variant of FANCD2 (Fanconi anemia group D2 protein)
S15G (p.Ser15Gly) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S15G (p.Ser15Gly) variant details
- p.Ser15Gly
- ExAC rs777509355
- TOPMed rs777509355
- gnomAD rs777509355
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- CADD 13.30
- PolyPhen-2 0.12
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available