I32V (p.Ile32Val) variant of PRKAA2 (P54646)
I32V (p.Ile32Val) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I32V (p.Ile32Val) variant details
- p.Ile32Val
- 1000Genomes rs774427325
- ExAC rs774427325
- gnomAD rs774427325
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.06
- MetaLR 0.02
- MetaSVM -1.05
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available