V30F (p.Val30Phe) variant of SORL1 (Sortilin-related receptor)
V30F (p.Val30Phe) 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.
V30F (p.Val30Phe) variant details
- p.Val30Phe
- gnomAD 11-121452419-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.24
- MetaLR 0.46
- MetaSVM -0.54
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available