S104N (p.Ser104Asn) variant of KRT12 (Keratin, type I cytoskeletal 12)
S104N (p.Ser104Asn) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S104N (p.Ser104Asn) variant details
- p.Ser104Asn
- 1000Genomes rs201147294
- ExAC rs201147294
- TOPMed rs201147294
- gnomAD rs201147294
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.16
- CADD 4.35
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available