M55K (p.Met55Lys) variant of SLC6A1 (P30531)
M55K (p.Met55Lys) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
M55K (p.Met55Lys) variant details
- p.Met55Lys
- gnomAD 3-11017375-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.85
- CADD 24.50
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available