I32N (p.Ile32Asn) variant of PRKAA2 (P54646)
I32N (p.Ile32Asn) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I32N (p.Ile32Asn) variant details
- p.Ile32Asn
- gnomAD 1-56674381-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.29
- MetaLR 0.08
- MetaSVM -1.12
- CADD 31.00
- PolyPhen-2 0.72
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available