M42I (p.Met42Ile) variant of SLC6A19 (Q695T7)
M42I (p.Met42Ile) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
M42I (p.Met42Ile) variant details
- p.Met42Ile
- gnomAD 5-1201776-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.30
- CADD 20.50
- PolyPhen-2 0.05
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available