S6T (p.Ser6Thr) variant of SORL1 (Sortilin-related receptor)
S6T (p.Ser6Thr) in SORL1 (Sortilin-related receptor) 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 0.46 / 1. The record also includes population frequency data and structural context.
S6T (p.Ser6Thr) variant details
- p.Ser6Thr
- rs774906532
- ClinGen CA6328267
- ClinVar RCV002979628
- ExAC rs774906532
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.29
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available