P24R (p.Pro24Arg) variant of SORL1 (Sortilin-related receptor)
P24R (p.Pro24Arg) 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.
P24R (p.Pro24Arg) variant details
- p.Pro24Arg
- gnomAD 11-121452402-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.21
- MetaLR 0.38
- MetaSVM -0.70
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available