D101N (p.Asp101Asn) variant of LCAT (P04180)
D101N (p.Asp101Asn) in LCAT (P04180) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
D101N (p.Asp101Asn) variant details
- p.Asp101Asn
- rs538148718
- ExAC rs538148718
- TOPMed rs538148718
- gnomAD rs538148718
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.81
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.02)
- Structural context available