M136I (p.Met136Ile) variant of CHD8 (Q9HCK8)
M136I (p.Met136Ile) 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 0.71 / 1. The record also includes population frequency data.
M136I (p.Met136Ile) variant details
- p.Met136Ile
- rs755770362
- ExAC rs755770362
- gnomAD rs755770362
- ClinGen CA388888822
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 19.70
- PolyPhen-2 0.11
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.6e-05)