S142A (p.Ser142Ala) variant of DLG4 (Disks large homolog 4)
S142A (p.Ser142Ala) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S142A (p.Ser142Ala) variant details
- p.Ser142Ala
- ExAC rs770457221
- gnomAD rs770457221
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.06
- CADD 20.90
- PolyPhen-2 0.03
- SIFT 0.20
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available