M49I (p.Met49Ile) variant of CHD8 (Q9HCK8)
M49I (p.Met49Ile) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
M49I (p.Met49Ile) variant details
- p.Met49Ile
- gnomAD rs1338245245
- cosmic curated COSV10533
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.91
- Most common in the South Asian population (allele frequency 2.5e-05)