M1V (p.Met1Val) variant of ASIC1 (Acid-sensing ion channel 1)
M1V (p.Met1Val) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1335987038
- gnomAD 12-50073609-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 9.11
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available