N132T (p.Asn132Thr) variant of ABCC4 (O15439)
N132T (p.Asn132Thr) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data.
N132T (p.Asn132Thr) variant details
- p.Asn132Thr
- TOPMed rs1313216777
- gnomAD rs1313216777
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 5.19
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the South Asian population (allele frequency 1.2e-05)