Y95D (p.Tyr95Asp) variant of CHD8 (Q9HCK8)
Y95D (p.Tyr95Asp) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
Y95D (p.Tyr95Asp) variant details
- p.Tyr95Asp
- cosmic curated COSV10130
- TOPMed rs1242431925
- gnomAD rs1242431925
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- UniProt: Conflicting interpretations
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)