P142T (p.Pro142Thr) variant of ASH1L (Q9NR48)
P142T (p.Pro142Thr) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
P142T (p.Pro142Thr) variant details
- p.Pro142Thr
- ExAC rs760195651
- TOPMed rs760195651
- gnomAD rs760195651
- Uncertain significance
- not provided
- Missense
- REVEL 0.20
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.8e-05)