S6N (p.Ser6Asn) variant of GNAI1 (P63096)
S6N (p.Ser6Asn) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S6N (p.Ser6Asn) variant details
- p.Ser6Asn
- gnomAD 7-80135177-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- MetaLR 0.72
- MetaSVM 0.55
- CADD 28.30
- PolyPhen-2 0.78
- SIFT 0.05
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available