I128V (p.Ile128Val) variant of CHD8 (Q9HCK8)
I128V (p.Ile128Val) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
I128V (p.Ile128Val) variant details
- p.Ile128Val
- rs1889551133
- ClinGen CA388888979
- ClinVar RCV002714846
- TOPMed rs1889551133
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)