A38A (p.Ala38Ala) variant of FANCD2 (Fanconi anemia group D2 protein)
A38A (p.Ala38Ala) in FANCD2 (Fanconi anemia group D2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A38A (p.Ala38Ala) variant details
- p.Ala38Ala
- rs1219697534
- gnomAD 3-10032336-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.125
- CADD 6.33
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available