Q2K (p.Gln2Lys) variant of TRMU (O75648)
Q2K (p.Gln2Lys) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q2K (p.Gln2Lys) variant details
- p.Gln2Lys
- gnomAD 22-46335768-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -1.00
- CADD 11.50
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available
- Literature evidence available