P23Q (p.Pro23Gln) variant of SORL1 (Sortilin-related receptor)
P23Q (p.Pro23Gln) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P23Q (p.Pro23Gln) variant details
- p.Pro23Gln
- gnomAD 11-121452399-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.28
- MetaLR 0.42
- MetaSVM -0.49
- CADD 22.40
- PolyPhen-2 0.23
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available