M16I (p.Met16Ile) variant of APOL1 (Apolipoprotein L1)
M16I (p.Met16Ile) in APOL1 (Apolipoprotein L1) 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 0.04 / 1. The record also includes population frequency data and structural context.
M16I (p.Met16Ile) variant details
- p.Met16Ile
- ESP rs368330805
- ExAC rs368330805
- TOPMed rs368330805
- gnomAD rs368330805
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0366
- REVEL 0.03
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available