P25L (p.Pro25Leu) variant of KRT5 (Keratin, type II cytoskeletal 5)
P25L (p.Pro25Leu) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Epidermolysis bullosa simplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- rs57499817
- ClinGen CA216792
- ClinVar RCV000015754
- ClinVar RCV000056643
- Pathogenic
- Inborn genetic diseases; not provided; Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.41
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Epidermolysis bullosa sim)
- EBI: Pathogenic (in EBS2F)
- UniProt: Pathogenic (in EBS2F)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the… (PMID 10494094)
- Cited in: Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation. (PMID 11167681)