T29A (p.Thr29Ala) variant of CHD8 (Q9HCK8)
T29A (p.Thr29Ala) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and published literature.
T29A (p.Thr29Ala) variant details
- p.Thr29Ala
- rs780546588
- ClinGen CA7091984
- ClinVar RCV002902987
- ClinVar RCV006342615
- Likely benign
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Likely benign (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)