A33S (p.Ala33Ser) variant of DLG4 (Disks large homolog 4)
A33S (p.Ala33Ser) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A33S (p.Ala33Ser) variant details
- p.Ala33Ser
- ExAC rs768555832
- gnomAD rs768555832
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.22
- CADD 24.50
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.884