N187S (p.Asn187Ser) variant of DLG4 (Disks large homolog 4)
N187S (p.Asn187Ser) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
N187S (p.Asn187Ser) variant details
- p.Asn187Ser
- TOPMed rs2070254480
- gnomAD rs2070254480
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.31
- CADD 25.50
- PolyPhen-2 0.69
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)