K42K (p.Lys42Lys) variant of ASIC1 (Acid-sensing ion channel 1)
K42K (p.Lys42Lys) in ASIC1 (Acid-sensing ion channel 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
K42K (p.Lys42Lys) variant details
- p.Lys42Lys
- rs1222342049
- gnomAD 12-50073722-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 12.50
- Most common in the 1KG:PJL population (allele frequency 0.026)
- Structural context available
- Literature evidence available