P15A (p.Pro15Ala) variant of ASIC1 (Acid-sensing ion channel 1)
P15A (p.Pro15Ala) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P15A (p.Pro15Ala) variant details
- p.Pro15Ala
- gnomAD 12-50073588-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 17.90
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available