M42L (p.Met42Leu) variant of SLC6A19 (Q695T7)
M42L (p.Met42Leu) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
M42L (p.Met42Leu) variant details
- p.Met42Leu
- gnomAD 5-1201774-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available