V75I (p.Val75Ile) variant of MLC1 (Membrane protein MLC1)
V75I (p.Val75Ile) in MLC1 (Membrane protein MLC1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V75I (p.Val75Ile) variant details
- p.Val75Ile
- gnomAD 2-210298501-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.54
- MetaSVM -0.18
- CADD 22.20
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- Structural context available
- Literature evidence available