H18Y (p.His18Tyr) variant of PRKAA1 (Q13131)
H18Y (p.His18Tyr) in PRKAA1 (Q13131) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
H18Y (p.His18Tyr) variant details
- p.His18Tyr
- cosmic curated COSV57184
- ESP rs377040057
- ExAC rs377040057
- TOPMed rs377040057
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.41
- MetaLR 0.27
- MetaSVM -0.55
- CADD 24.40
- PolyPhen-2 0.50
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available