R30S (p.Arg30Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
R30S (p.Arg30Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R30S (p.Arg30Ser) variant details
- p.Arg30Ser
- 1000Genomes rs201069984
- ESP rs201069984
- ExAC rs201069984
- TOPMed rs201069984
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.47
- CADD 23.50
- PolyPhen-2 0.34
- SIFT 0.03
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available