P47S (p.Pro47Ser) variant of MAPT (P10636)
P47S (p.Pro47Ser) in MAPT (P10636) 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 0.22 / 1. The record also includes population frequency data and structural context.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- rs751685945
- NCI-TCGA Cosmic COSV5223
- cosmic curated COSV52236
- ExAC rs751685945
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.12
- MetaLR 0.12
- MetaSVM -0.99
- CADD 18.30
- PolyPhen-2 0.55
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available