K42E (p.Lys42Glu) variant of ASIC1 (Acid-sensing ion channel 1)
K42E (p.Lys42Glu) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K42E (p.Lys42Glu) variant details
- p.Lys42Glu
- gnomAD 12-50073741-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 6.95
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available