Y36C (p.Tyr36Cys) variant of ASIC1 (Acid-sensing ion channel 1)
Y36C (p.Tyr36Cys) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Y36C (p.Tyr36Cys) variant details
- p.Tyr36Cys
- gnomAD rs1369370966
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.40
- MetaSVM -0.23
- CADD 24.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available