V41I (p.Val41Ile) variant of FANCD2 (Fanconi anemia group D2 protein)
V41I (p.Val41Ile) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V41I (p.Val41Ile) variant details
- p.Val41Ile
- gnomAD 3-10032888-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 14.20
- PolyPhen-2 0.04
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available