P21S (p.Pro21Ser) variant of DLG4 (Disks large homolog 4)
P21S (p.Pro21Ser) 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.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- cosmic curated COSV10513
- TOPMed rs2070566957
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.24
- CADD 22.50
- PolyPhen-2 0.29
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.71