S4T (p.Ser4Thr) variant of KRT17 (Keratin, type I cytoskeletal 17)
S4T (p.Ser4Thr) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S4T (p.Ser4Thr) variant details
- p.Ser4Thr
- rs11553458
- ClinGen CA8563887
- ClinVar RCV002090650
- ClinVar RCV004731231
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.20
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available