K42R (p.Lys42Arg) variant of ASIC1 (Acid-sensing ion channel 1)
K42R (p.Lys42Arg) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K42R (p.Lys42Arg) variant details
- p.Lys42Arg
- gnomAD 12-50058891-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.10
- ESM-1b 0.91
- AlphaMissense 0.08
- MetaLR 0.06
- MetaSVM -1.01
- CADD 18.80
- Population evidence available
- Structural context available
- Literature evidence available