S14I (p.Ser14Ile) variant of KRT6A (Keratin, type II cytoskeletal 6A)
S14I (p.Ser14Ile) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S14I (p.Ser14Ile) variant details
- p.Ser14Ile
- gnomAD rs1340135615
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.10
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available