P47L (p.Pro47Leu) variant of MAPT (P10636)
P47L (p.Pro47Leu) 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 0.35 / 1. The record also includes population frequency data and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99290
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.19
- MetaLR 0.16
- MetaSVM -0.91
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available