L11R (p.Leu11Arg) variant of PCCA (P05165)
L11R (p.Leu11Arg) in PCCA (P05165) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- TOPMed rs1462181349
- gnomAD rs1462181349
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available