K42N (p.Lys42Asn) variant of ASIC1 (Acid-sensing ion channel 1)
K42N (p.Lys42Asn) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K42N (p.Lys42Asn) variant details
- p.Lys42Asn
- gnomAD 12-50058892-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.21
- MetaSVM -0.62
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available