L17V (p.Leu17Val) variant of CHD8 (Q9HCK8)
L17V (p.Leu17Val) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- gnomAD rs1182610347
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 23.80
- PolyPhen-2 0.65
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)