R7T (p.Arg7Thr) variant of SORL1 (Sortilin-related receptor)
R7T (p.Arg7Thr) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R7T (p.Arg7Thr) variant details
- p.Arg7Thr
- gnomAD 11-121452351-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available