T32M (p.Thr32Met) variant of SORL1 (Sortilin-related receptor)
T32M (p.Thr32Met) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T32M (p.Thr32Met) variant details
- p.Thr32Met
- gnomAD 11-121452426-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.23
- MetaLR 0.48
- MetaSVM -0.42
- CADD 23.70
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available
- Literature evidence available