M141K (p.Met141Lys) variant of APP (Amyloid-beta precursor protein)
M141K (p.Met141Lys) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
M141K (p.Met141Lys) variant details
- p.Met141Lys
- ExAC rs745588837
- gnomAD rs745588837
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.92
- CADD 27.30
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available