P134S (p.Pro134Ser) variant of CHD8 (Q9HCK8)
P134S (p.Pro134Ser) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
P134S (p.Pro134Ser) variant details
- p.Pro134Ser
- rs763843295
- ClinGen CA7091961
- cosmic curated COSV10533
- ClinVar RCV002275403
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 23.40
- PolyPhen-2 0.86
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)