I101S (p.Ile101Ser) variant of KRT10 (Keratin, type I cytoskeletal 10)
I101S (p.Ile101Ser) in KRT10 (Keratin, type I cytoskeletal 10) 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 0.17 / 1. The record also includes population frequency data and published literature.
I101S (p.Ile101Ser) variant details
- p.Ile101Ser
- rs4261597
- ClinGen CA8548324
- ClinVar RCV002117882
- UniProt VAR 058202
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.21
- CADD 8.16
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs4261597)
- UniProt: Benign (in dbSNP:rs4261597)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: The complete sequence of the human intermediate filament chain keratin 10. Subdomainal divisions and model for folding… (PMID 2459124)