T30S (p.Thr30Ser) variant of ASH1L (Q9NR48)
T30S (p.Thr30Ser) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
T30S (p.Thr30Ser) variant details
- p.Thr30Ser
- ExAC rs761764613
- TOPMed rs761764613
- gnomAD rs761764613
- Likely benign
- Inborn genetic diseases
- Missense
- REVEL 0.33
- CADD 22.20
- PolyPhen-2 0.07
- SIFT 0.05
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)