T32K (p.Thr32Lys) variant of SORL1 (Sortilin-related receptor)
T32K (p.Thr32Lys) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T32K (p.Thr32Lys) variant details
- p.Thr32Lys
- ExAC rs780711159
- TOPMed rs780711159
- gnomAD rs780711159
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.21
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 3.6e-05)
- Structural context available