D113N (p.Asp113Asn) variant of KRT13 (Keratin, type I cytoskeletal 13)
D113N (p.Asp113Asn) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of White sponge nevus 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
D113N (p.Asp113Asn) variant details
- p.Asp113Asn
- rs886052908
- ClinGen CA10645621
- NCI-TCGA Cosmic COSV5583
- cosmic curated COSV55839
- Uncertain significance
- White sponge nevus 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.67
- CADD 25.50
- PolyPhen-2 0.78
- SIFT 0.02
- ClinVar: Uncertain significance (White sponge nevus 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available