S10L (p.Ser10Leu) variant of SORL1 (Sortilin-related receptor)
S10L (p.Ser10Leu) 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 0.42 / 1. The record also includes population frequency data and structural context.
S10L (p.Ser10Leu) variant details
- p.Ser10Leu
- rs775717593
- ClinGen CA6328270
- ClinVar RCV001994925
- ExAC rs775717593
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.23
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available