R99H (p.Arg99His) variant of CDKN1C (P49918)
R99H (p.Arg99His) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Beckwith-Wiedemann syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R99H (p.Arg99His) variant details
- p.Arg99His
- rs1287328131
- gnomAD rs1287328131
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- MetaLR 0.50
- MetaSVM -0.43
- CADD 8.06
- SIFT 0.08
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00034)
- Structural context available