L135V (p.Leu135Val) variant of PRKAA1 (Q13131)
L135V (p.Leu135Val) 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 0.36 / 1. The record also includes population frequency data and structural context.
L135V (p.Leu135Val) variant details
- p.Leu135Val
- rs975410782
- ClinGen CA117211744
- ClinVar RCV004515065
- gnomAD rs975410782
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.15
- MetaLR 0.06
- MetaSVM -1.07
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available