R30L (p.Arg30Leu) variant of KRT14 (Keratin, type I cytoskeletal 14)
R30L (p.Arg30Leu) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R30L (p.Arg30Leu) variant details
- p.Arg30Leu
- rs756137651
- ClinGen CA399483601
- ClinVar RCV002730685
- ExAC rs756137651
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.46
- CADD 23.70
- PolyPhen-2 0.21
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available