S80N (p.Ser80Asn) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S80N (p.Ser80Asn) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S80N (p.Ser80Asn) variant details
- p.Ser80Asn
- 1000Genomes rs560354778
- ExAC rs560354778
- TOPMed rs560354778
- gnomAD rs560354778
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.12
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available