S10Y (p.Ser10Tyr) variant of CDKN1C (P49918)
S10Y (p.Ser10Tyr) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Beckwith-Wiedemann syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S10Y (p.Ser10Tyr) variant details
- p.Ser10Tyr
- rs1420666038
- ClinGen CA379147996
- ClinVar RCV000698775
- ClinVar RCV005791925
- Uncertain significance
- Beckwith-Wiedemann syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 22.90
- SIFT 0.00
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)