N132K (p.Asn132Lys) variant of ABCC4 (O15439)
N132K (p.Asn132Lys) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
N132K (p.Asn132Lys) variant details
- p.Asn132Lys
- TOPMed rs2039717592
- Missense
- Variant Prioritization Score for Impact Estimate 0.058
- CADD 0.48
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)