S9A (p.Ser9Ala) variant of KRT8 (Keratin, type II cytoskeletal 8)
S9A (p.Ser9Ala) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S9A (p.Ser9Ala) variant details
- p.Ser9Ala
- rs549320537
- ClinGen CA6590642
- ClinVar RCV004309841
- 1000Genomes rs549320537
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 22.70
- PolyPhen-2 0.22
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available