P20R (p.Pro20Arg) variant of SHANK1 (Q9Y566)
P20R (p.Pro20Arg) in SHANK1 (Q9Y566) 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 and structural context.
P20R (p.Pro20Arg) variant details
- p.Pro20Arg
- TOPMed rs1477523945
- gnomAD rs1477523945
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.14
- MetaLR 0.06
- MetaSVM -1.04
- CADD 26.40
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available