N5S (p.Asn5Ser) variant of KRT12 (Keratin, type I cytoskeletal 12)
N5S (p.Asn5Ser) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N5S (p.Asn5Ser) variant details
- p.Asn5Ser
- Ensembl rs1597844607
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.11
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.86
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available