S101G (p.Ser101Gly) variant of KRT2 (P35908)
S101G (p.Ser101Gly) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Ichthyosis bullosa of Siemens. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S101G (p.Ser101Gly) variant details
- p.Ser101Gly
- rs2634041
- ClinGen CA6585888
- ClinVar RCV000320436
- ClinVar RCV001636880
- Benign
- not provided; Ichthyosis bullosa of Siemens
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.14
- CADD 5.41
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (not provided; Ichthyosis bullosa of Siemens)
- EBI: Benign (in dbSNP:rs2634041)
- UniProt: Benign (in dbSNP:rs2634041)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation. (PMID 1380918)
- Cited in: Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in… (PMID 9804344)