V58M (p.Val58Met) variant of CHD8 (Q9HCK8)
V58M (p.Val58Met) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and published literature.
V58M (p.Val58Met) variant details
- p.Val58Met
- rs10467770
- ClinGen CA7091980
- cosmic curated COSV67871
- ClinVar RCV001692264
- Benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 14.30
- PolyPhen-2 0.03
- SIFT 0.08
- ClinVar: Benign (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YAKUT population (allele frequency 0.68)
- 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)