P71A (p.Pro71Ala) variant of SCN5A (Nav1.5)
P71A (p.Pro71Ala) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
P71A (p.Pro71Ala) variant details
- p.Pro71Ala
- rs2471904890
- ClinGen CA352158133
- ClinVar RCV003658199
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- ESM-1b 0.00
- AlphaMissense 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available