A60V (p.Ala60Val) variant of ASH1L (Q9NR48)
A60V (p.Ala60Val) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Inborn genetic diseases. The record also includes variant effect predictions, population frequency data, and published literature.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- rs767568776
- ClinGen CA1147521
- ClinVar RCV003404861
- ClinVar RCV004364470
- Uncertain significance
- not specified; Inborn genetic diseases
- Missense
- REVEL 0.21
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not specified; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)