I24V (p.Ile24Val) variant of PRKAA1 (Q13131)
I24V (p.Ile24Val) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I24V (p.Ile24Val) variant details
- p.Ile24Val
- Ensembl rs2112122169
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.18
- MetaLR 0.03
- MetaSVM -1.08
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available