T32S (p.Thr32Ser) variant of SORL1 (Sortilin-related receptor)
T32S (p.Thr32Ser) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T32S (p.Thr32Ser) variant details
- p.Thr32Ser
- gnomAD 11-121452425-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.20
- MetaLR 0.37
- MetaSVM -0.71
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available