H18P (p.His18Pro) variant of PRKAA1 (Q13131)
H18P (p.His18Pro) 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 0.45 / 1. The record also includes population frequency data and structural context.
H18P (p.His18Pro) variant details
- p.His18Pro
- rs749919427
- ClinGen CA3248643
- ClinVar RCV004213895
- ExAC rs749919427
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.40
- MetaLR 0.28
- MetaSVM -0.63
- CADD 24.20
- PolyPhen-2 0.53
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0001)
- Structural context available