V13A (p.Val13Ala) variant of ASIC1 (Acid-sensing ion channel 1)
V13A (p.Val13Ala) 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 and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- Ensembl rs1592263193
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.06
- MetaSVM -1.00
- CADD 19.00
- Most common in the African/African-American population (allele frequency 0.00046)
- Structural context available