R6G (p.Arg6Gly) variant of FANCD2 (Fanconi anemia group D2 protein)
R6G (p.Arg6Gly) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- cosmic curated COSV10515
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 20.60
- PolyPhen-2 0.37
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available