R8K (p.Arg8Lys) variant of SORL1 (Sortilin-related receptor)
R8K (p.Arg8Lys) 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.
R8K (p.Arg8Lys) variant details
- p.Arg8Lys
- gnomAD 11-121452354-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.18
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available