M16I (p.Met16Ile) variant of PSEN1 (Presenilin-1)
M16I (p.Met16Ile) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
M16I (p.Met16Ile) variant details
- p.Met16Ile
- cosmic curated COSV56197
- TOPMed rs1897119716
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.47
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available