A88D (p.Ala88Asp) variant of KRT3 (Keratin, type II cytoskeletal 3)
A88D (p.Ala88Asp) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
A88D (p.Ala88Asp) variant details
- p.Ala88Asp
- rs200393349
- ClinGen CA384979348
- ClinVar RCV004117667
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.05
- MetaLR 0.29
- MetaSVM -0.88
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available