A4T (p.Ala4Thr) variant of APOL1 (Apolipoprotein L1)
A4T (p.Ala4Thr) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- cosmic curated COSV10004
- ExAC rs757047440
- TOPMed rs757047440
- gnomAD rs757047440
- Missense
- Variant Prioritization Score for Impact Estimate 0.0937
- REVEL 0.04
- CADD 6.08
- PolyPhen-2 0.07
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available