V13I (p.Val13Ile) variant of ASIC1 (Acid-sensing ion channel 1)
V13I (p.Val13Ile) 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.
V13I (p.Val13Ile) variant details
- p.Val13Ile
- rs368761955
- cosmic curated COSV57317
- ESP rs368761955
- ExAC rs368761955
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.05
- ESM-1b 0.15
- AlphaMissense 0.07
- MetaLR 0.12
- MetaSVM -1.06
- CADD 16.80
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available