G14C (p.Gly14Cys) variant of TRMU (O75648)
G14C (p.Gly14Cys) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G14C (p.Gly14Cys) variant details
- p.Gly14Cys
- gnomAD 22-46335804-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.98
- MetaSVM 1.06
- CADD 32.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available