P13L (p.Pro13Leu) variant of SORL1 (Sortilin-related receptor)
P13L (p.Pro13Leu) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- TOPMed rs1032527926
- gnomAD rs1032527926
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.13
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available