Q33R (p.Gln33Arg) variant of SORL1 (Sortilin-related receptor)
Q33R (p.Gln33Arg) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q33R (p.Gln33Arg) variant details
- p.Gln33Arg
- gnomAD rs1479326649
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.21
- CADD 5.18
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the Latino/Admixed American population (allele frequency 3.2e-05)
- Structural context available