N76S (p.Asn76Ser) variant of CHAMP1 (Q96JM3)
N76S (p.Asn76Ser) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N76S (p.Asn76Ser) variant details
- p.Asn76Ser
- gnomAD 13-114324069-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available
- Literature evidence available