V103A (p.Val103Ala) variant of PRKAA1 (Q13131)
V103A (p.Val103Ala) in PRKAA1 (Q13131) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V103A (p.Val103Ala) variant details
- p.Val103Ala
- gnomAD rs865932512
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.37
- MetaLR 0.09
- MetaSVM -1.05
- CADD 23.90
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available