P65L (p.Pro65Leu) variant of SCN5A (Q14524)
P65L (p.Pro65Leu) in SCN5A (Q14524) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
P65L (p.Pro65Leu) variant details
- p.Pro65Leu
- cosmic curated COSV60068
- 1000Genomes rs566155914
- ExAC rs566155914
- gnomAD rs566155914
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.85
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available