P32T (p.Pro32Thr) variant of ABCA4 (P78363)
P32T (p.Pro32Thr) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
P32T (p.Pro32Thr) variant details
- p.Pro32Thr
- ExAC rs760036995
- gnomAD rs760036995
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.91
- MetaLR 0.89
- MetaSVM 1.02
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available