P27S (p.Pro27Ser) variant of FANCD2 (Fanconi anemia group D2 protein)
P27S (p.Pro27Ser) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. 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.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- ExAC rs371451683
- gnomAD rs371451683
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 1.95
- PolyPhen-2 0.09
- SIFT 0.56
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available