M16K (p.Met16Lys) variant of PSEN1 (Presenilin-1)
M16K (p.Met16Lys) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
M16K (p.Met16Lys) variant details
- p.Met16Lys
- gnomAD 14-73148066-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.58
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available