V22M (p.Val22Met) variant of PRKAA1 (Q13131)
V22M (p.Val22Met) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V22M (p.Val22Met) variant details
- p.Val22Met
- cosmic curated COSV57183
- ExAC rs753214385
- gnomAD rs753214385
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.31
- MetaLR 0.30
- MetaSVM -0.53
- CADD 24.30
- PolyPhen-2 0.47
- SIFT 0.08
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available