G37V (p.Gly37Val) variant of SORL1 (Sortilin-related receptor)
G37V (p.Gly37Val) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G37V (p.Gly37Val) variant details
- p.Gly37Val
- gnomAD 11-121452441-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.28
- MetaLR 0.51
- MetaSVM -0.22
- CADD 23.30
- PolyPhen-2 0.71
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available