P87S (p.Pro87Ser) variant of ATP1A1 (P05023)
P87S (p.Pro87Ser) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P87S (p.Pro87Ser) variant details
- p.Pro87Ser
- ExAC rs749401049
- TOPMed rs749401049
- gnomAD rs749401049
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.66
- MetaLR 0.53
- MetaSVM 0.02
- CADD 22.40
- PolyPhen-2 0.44
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0066)
- Structural context available