S5N (p.Ser5Asn) variant of SORL1 (Sortilin-related receptor)
S5N (p.Ser5Asn) in SORL1 (Sortilin-related receptor) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data and structural context.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- ExAC rs771534455
- TOPMed rs771534455
- gnomAD rs771534455
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.26
- CADD 24.00
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00029)
- Structural context available