M1K (p.Met1Lys) variant of NRXN1 (Neurexin-1)
M1K (p.Met1Lys) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- gnomAD 2-49973993-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 20.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available