P150S (p.Pro150Ser) variant of SHANK1 (Q9Y566)
P150S (p.Pro150Ser) in SHANK1 (Q9Y566) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P150S (p.Pro150Ser) variant details
- p.Pro150Ser
- NCI-TCGA Cosmic COSV5325
- cosmic curated COSV53258
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.37
- MetaLR 0.10
- MetaSVM -0.98
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available