H6N (p.His6Asn) variant of TRMU (O75648)
H6N (p.His6Asn) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
H6N (p.His6Asn) variant details
- p.His6Asn
- ExAC rs748699705
- gnomAD rs748699705
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the 1KG:CLM population (allele frequency 0.043)
- Structural context available