I37V (p.Ile37Val) variant of FANCD2 (Fanconi anemia group D2 protein)
I37V (p.Ile37Val) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
I37V (p.Ile37Val) variant details
- p.Ile37Val
- rs887300237
- gnomAD 3-10032307-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 9.08
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Literature evidence available