P8L (p.Pro8Leu) variant of KCNA2 (P16389)
P8L (p.Pro8Leu) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 32. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- rs1487522107
- ClinGen CA341607420
- cosmic curated COSV10647
- ClinVar RCV001306291
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.31
- AlphaMissense 0.08
- MetaLR 0.58
- MetaSVM -0.17
- CADD 22.50
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available