G49S (p.Gly49Ser) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G49S (p.Gly49Ser) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G49S (p.Gly49Ser) variant details
- p.Gly49Ser
- gnomAD rs1439509644
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.26
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available