V13F (p.Val13Phe) variant of ASIC1 (Acid-sensing ion channel 1)
V13F (p.Val13Phe) in ASIC1 (Acid-sensing ion channel 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V13F (p.Val13Phe) variant details
- p.Val13Phe
- ESP rs368761955
- ExAC rs368761955
- TOPMed rs368761955
- gnomAD rs368761955
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.10
- MetaSVM -1.08
- CADD 18.70
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available