P12R (p.Pro12Arg) variant of CHD8 (Q9HCK8)
P12R (p.Pro12Arg) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- ExAC rs752130892
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- CADD 17.80
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.8e-05)