V49V (p.Val49Val) variant of FANCD2 (Fanconi anemia group D2 protein)
V49V (p.Val49Val) in FANCD2 (Fanconi anemia group D2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V49V (p.Val49Val) variant details
- p.Val49Val
- rs1481361489
- gnomAD 3-10032914-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 3.84
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available