P12L (p.Pro12Leu) variant of CHD8 (Q9HCK8)
P12L (p.Pro12Leu) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- cosmic curated COSV10470
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- CADD 18.30
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)