M1V (p.Met1Val) variant of FANCD2 (Fanconi anemia group D2 protein)
M1V (p.Met1Val) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and published literature.
M1V (p.Met1Val) variant details
- p.Met1Val
- gnomAD 3-10032301-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 6.01
- Population evidence available
- Literature evidence available