S9F (p.Ser9Phe) variant of KRT3 (Keratin, type II cytoskeletal 3)
S9F (p.Ser9Phe) in KRT3 (Keratin, type II cytoskeletal 3) 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.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- rs143951674
- ClinGen CA6588327
- ClinVar RCV004242447
- 1000Genomes rs143951674
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.09
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available