T40A (p.Thr40Ala) variant of APOA1 (Apolipoprotein A-I)
T40A (p.Thr40Ala) in APOA1 (Apolipoprotein A-I) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T40A (p.Thr40Ala) variant details
- p.Thr40Ala
- cosmic curated COSV99369
- ExAC rs774753857
- gnomAD rs774753857
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.18
- CADD 8.79
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available