A72D (p.Ala72Asp) variant of KRT4 (Keratin, type II cytoskeletal 4)
A72D (p.Ala72Asp) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele K4A1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A72D (p.Ala72Asp) variant details
- p.Ala72Asp
- 1000Genomes rs2638525
- ESP rs2638525
- ExAC rs2638525
- TOPMed rs2638525
- Benign
- in allele K4A1
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.23
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.03
- EBI: Benign (in allele K4A1)
- UniProt: Benign (in allele K4A1)
- Population evidence available
- Structural context available