M49V (p.Met49Val) variant of CHD8 (Q9HCK8)
M49V (p.Met49Val) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
M49V (p.Met49Val) variant details
- p.Met49Val
- rs181830482
- ClinGen CA7091982
- ClinVar RCV000872872
- ClinVar RCV002314410
- Benign/Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.026)
- 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)