T16A (p.Thr16Ala) variant of ABCA4 (P78363)
T16A (p.Thr16Ala) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
T16A (p.Thr16Ala) variant details
- p.Thr16Ala
- ExAC rs767182574
- gnomAD rs767182574
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.70
- MetaLR 0.84
- MetaSVM 0.84
- CADD 23.40
- PolyPhen-2 0.28
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available