I8N (p.Ile8Asn) variant of KRT6A (Keratin, type II cytoskeletal 6A)
I8N (p.Ile8Asn) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
I8N (p.Ile8Asn) variant details
- p.Ile8Asn
- gnomAD rs1938305741
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.09
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available