P51S (p.Pro51Ser) variant of SCN10A (Q9Y5Y9)
P51S (p.Pro51Ser) in SCN10A (Q9Y5Y9) 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 0.26 / 1. The record also includes population frequency data and structural context.
P51S (p.Pro51Ser) variant details
- p.Pro51Ser
- NCI-TCGA Cosmic COSV1014
- cosmic curated COSV10147
- ESP rs368312678
- TOPMed rs368312678
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.29
- MetaLR 0.82
- MetaSVM 0.15
- CADD 0.33
- PolyPhen-2 0.00
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available