D16N (p.Asp16Asn) variant of TRMU (O75648)
D16N (p.Asp16Asn) 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.
D16N (p.Asp16Asn) variant details
- p.Asp16Asn
- gnomAD 22-46335810-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.97
- CADD 32.00
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available
- Literature evidence available