N28K (p.Asn28Lys) variant of CHAMP1 (Q96JM3)
N28K (p.Asn28Lys) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N28K (p.Asn28Lys) variant details
- p.Asn28Lys
- gnomAD 13-114323926-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.60
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Literature evidence available