V155D (p.Val155Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
V155D (p.Val155Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolytic ichthyosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
V155D (p.Val155Asp) variant details
- p.Val155Asp
- rs57959072
- ClinGen CA126048
- ClinVar RCV000017264
- ClinVar RCV000057081
- Pathogenic
- Epidermolytic ichthyosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 0.95
- MetaLR 0.84
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Epidermolytic ichthyosis)
- EBI: Pathogenic (in EHK1)
- UniProt: Pathogenic (in EHK1)
- Structural context available
- Cited in: New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause… (PMID 11531804)
- Cited in: An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic… (PMID 10232403)