S14R (p.Ser14Arg) variant of KRT9 (Keratin, type I cytoskeletal 9)
S14R (p.Ser14Arg) in KRT9 (Keratin, type I cytoskeletal 9) 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 0.26 / 1. The record also includes population frequency data and structural context.
S14R (p.Ser14Arg) variant details
- p.Ser14Arg
- 1000Genomes rs116077803
- ESP rs116077803
- ExAC rs116077803
- TOPMed rs116077803
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.32
- CADD 17.00
- PolyPhen-2 0.69
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available