S106N (p.Ser106Asn) variant of KRT2 (P35908)
S106N (p.Ser106Asn) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Ichthyosis bullosa of Siemens; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S106N (p.Ser106Asn) variant details
- p.Ser106Asn
- rs74660757
- ClinGen CA6585869
- ClinVar RCV000886633
- ClinVar RCV001109693
- Benign
- Ichthyosis bullosa of Siemens; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.20
- CADD 2.51
- PolyPhen-2 0.07
- SIFT 0.17
- ClinVar: Benign (Ichthyosis bullosa of Siemens; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available