A90E (p.Ala90Glu) variant of KRT3 (Keratin, type II cytoskeletal 3)
A90E (p.Ala90Glu) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A90E (p.Ala90Glu) variant details
- p.Ala90Glu
- TOPMed rs1939629233
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.13
- CADD 1.21
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available