V41M (p.Val41Met) variant of FANCD2 (Fanconi anemia group D2 protein)
V41M (p.Val41Met) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V41M (p.Val41Met) variant details
- p.Val41Met
- rs1348930248
- gnomAD 3-10032337-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 5.51
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available