P13Q (p.Pro13Gln) variant of SORL1 (Sortilin-related receptor)
P13Q (p.Pro13Gln) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P13Q (p.Pro13Gln) variant details
- p.Pro13Gln
- gnomAD 11-121452369-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.21
- CADD 21.70
- PolyPhen-2 0.30
- SIFT 0.43
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available
- Literature evidence available