S10P (p.Ser10Pro) variant of FANCD2 (Fanconi anemia group D2 protein)
S10P (p.Ser10Pro) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Fanconi anemia; Fanconi anemia complementation group D2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S10P (p.Ser10Pro) variant details
- p.Ser10Pro
- rs150075366
- ClinGen CA2249075
- ClinVar RCV000697784
- ClinVar RCV000764451
- Uncertain significance
- not provided; Fanconi anemia; Fanconi anemia complementation group D2
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 20.80
- PolyPhen-2 0.64
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Fanconi anemia; Fanconi anemia complementation gro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)