V35I (p.Val35Ile) variant of PRKAA1 (Q13131)
V35I (p.Val35Ile) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V35I (p.Val35Ile) variant details
- p.Val35Ile
- ExAC rs774220592
- gnomAD rs774220592
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.19
- MetaLR 0.17
- MetaSVM -0.92
- CADD 19.70
- PolyPhen-2 0.04
- SIFT 0.13
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available