A72V (p.Ala72Val) variant of MAPT (P10636)
A72V (p.Ala72Val) 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 0.28 / 1. The record also includes population frequency data and structural context.
A72V (p.Ala72Val) variant details
- p.Ala72Val
- rs771618879
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99290
- ExAC rs771618879
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.04
- CADD 17.60
- PolyPhen-2 0.04
- SIFT 0.57
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available