N6T (p.Asn6Thr) variant of KRT12 (Keratin, type I cytoskeletal 12)
N6T (p.Asn6Thr) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
N6T (p.Asn6Thr) variant details
- p.Asn6Thr
- TOPMed rs1473405391
- gnomAD rs1473405391
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.13
- CADD 4.83
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available