K42T (p.Lys42Thr) variant of ASIC1 (Acid-sensing ion channel 1)
K42T (p.Lys42Thr) in ASIC1 (Acid-sensing ion channel 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
K42T (p.Lys42Thr) variant details
- p.Lys42Thr
- rs1950622965
- gnomAD 12-50073738-AGGAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 14.20
- Most common in the 1KG:MXL population (allele frequency 0.024)
- Structural context available
- Literature evidence available