M1R (p.Met1Arg) variant of FANCD2 (Fanconi anemia group D2 protein)
M1R (p.Met1Arg) 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.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- gnomAD 3-10032302-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 4.92
- Population evidence available
- Literature evidence available