V41L (p.Val41Leu) variant of FANCD2 (Fanconi anemia group D2 protein)
V41L (p.Val41Leu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V41L (p.Val41Leu) variant details
- p.Val41Leu
- ExAC rs758983789
- TOPMed rs758983789
- gnomAD rs758983789
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 14.50
- PolyPhen-2 0.16
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available