P23L (p.Pro23Leu) variant of SORL1 (Sortilin-related receptor)
P23L (p.Pro23Leu) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- rs766279573
- ClinGen CA6328275
- ClinVar RCV004082893
- ExAC rs766279573
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.17
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available