S10P (p.Ser10Pro) variant of SORL1 (Sortilin-related receptor)
S10P (p.Ser10Pro) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S10P (p.Ser10Pro) variant details
- p.Ser10Pro
- gnomAD 11-121452359-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.22
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available