M21R (p.Met21Arg) variant of PSEN2 (Presenilin-2)
M21R (p.Met21Arg) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
M21R (p.Met21Arg) variant details
- p.Met21Arg
- gnomAD 1-226881969-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.60
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available