I76V (p.Ile76Val) variant of PRKAA1 (Q13131)
I76V (p.Ile76Val) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I76V (p.Ile76Val) variant details
- p.Ile76Val
- gnomAD rs1185114438
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.24
- MetaLR 0.09
- MetaSVM -1.04
- CADD 25.50
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available