M11I (p.Met11Ile) variant of MAPT (P10636)
M11I (p.Met11Ile) in MAPT (P10636) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
M11I (p.Met11Ile) variant details
- p.Met11Ile
- cosmic curated COSV10457
- gnomAD rs1440753861
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.02
- MetaLR 0.08
- MetaSVM -1.07
- CADD 20.00
- PolyPhen-2 0.88
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available