S17T (p.Ser17Thr) variant of ASIC1 (Acid-sensing ion channel 1)
S17T (p.Ser17Thr) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S17T (p.Ser17Thr) variant details
- p.Ser17Thr
- gnomAD 12-50073612-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 17.60
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available