S29L (p.Ser29Leu) variant of FANCD2 (Fanconi anemia group D2 protein)
S29L (p.Ser29Leu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S29L (p.Ser29Leu) variant details
- p.Ser29Leu
- gnomAD 3-10032311-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 5.56
- Population evidence available
- Structural context available
- Literature evidence available