N154S (p.Asn154Ser) variant of KRT10 (Keratin, type I cytoskeletal 10)
N154S (p.Asn154Ser) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
N154S (p.Asn154Ser) variant details
- p.Asn154Ser
- rs2143150923
- ClinGen CA399394803
- ClinVar RCV002001626
- Ensembl rs2143150923
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in EHK2A)
- UniProt: Likely pathogenic (in EHK2A)
- Structural context available