D29N (p.Asp29Asn) variant of LPL (Lipoprotein lipase)
D29N (p.Asp29Asn) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D29N (p.Asp29Asn) variant details
- p.Asp29Asn
- ExAC rs762788938
- gnomAD rs762788938
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- MetaLR 0.48
- MetaSVM -0.70
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available