S41R (p.Ser41Arg) variant of CHD8 (Q9HCK8)
S41R (p.Ser41Arg) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
S41R (p.Ser41Arg) variant details
- p.Ser41Arg
- gnomAD rs1189500705
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 16.00
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 2.4e-05)