S29T (p.Ser29Thr) variant of FANCD2 (Fanconi anemia group D2 protein)
S29T (p.Ser29Thr) 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, published literature, and structural context.
S29T (p.Ser29Thr) variant details
- p.Ser29Thr
- gnomAD 3-10032852-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 9.47
- PolyPhen-2 0.26
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available