S5I (p.Ser5Ile) variant of SORL1 (Sortilin-related receptor)
S5I (p.Ser5Ile) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S5I (p.Ser5Ile) variant details
- p.Ser5Ile
- gnomAD 11-121452345-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.26
- CADD 24.40
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available