T7N (p.Thr7Asn) variant of KRT12 (Keratin, type I cytoskeletal 12)
T7N (p.Thr7Asn) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T7N (p.Thr7Asn) variant details
- p.Thr7Asn
- gnomAD rs1201788608
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.15
- CADD 3.85
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available