M16L (p.Met16Leu) variant of PSEN1 (Presenilin-1)
M16L (p.Met16Leu) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
M16L (p.Met16Leu) variant details
- p.Met16Leu
- gnomAD 14-73148065-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.50
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available