E9K (p.Glu9Lys) variant of GNAT1 (P11488)
E9K (p.Glu9Lys) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- cosmic curated COSV10581
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.42
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.46
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available