L27S (p.Leu27Ser) variant of ASIC1 (Acid-sensing ion channel 1)
L27S (p.Leu27Ser) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L27S (p.Leu27Ser) variant details
- p.Leu27Ser
- rs1950621528
- gnomAD 12-50073646-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.03
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 14.40
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available