N6K (p.Asn6Lys) variant of KRT12 (Keratin, type I cytoskeletal 12)
N6K (p.Asn6Lys) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N6K (p.Asn6Lys) variant details
- p.Asn6Lys
- ExAC rs748192066
- gnomAD rs748192066
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.15
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available