R11P (p.Arg11Pro) variant of SORL1 (Sortilin-related receptor)
R11P (p.Arg11Pro) 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 0.44 / 1. The record also includes population frequency data and structural context.
R11P (p.Arg11Pro) variant details
- p.Arg11Pro
- rs147575757
- ClinGen CA6328271
- ClinVar RCV002633344
- ESP rs147575757
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.31
- CADD 25.20
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00076)
- Structural context available