Q38K (p.Gln38Lys) variant of MLC1 (Membrane protein MLC1)
Q38K (p.Gln38Lys) 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.
Q38K (p.Gln38Lys) variant details
- p.Gln38Lys
- rs867165223
- gnomAD 2-210302494-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.10
- PolyPhen-2 0.08
- SIFT 0.35
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- Structural context available
- Literature evidence available