N29K (p.Asn29Lys) variant of ALDH2 (P05091)
N29K (p.Asn29Lys) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N29K (p.Asn29Lys) variant details
- p.Asn29Lys
- gnomAD 12-111767069-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.20
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.93
- Population evidence available
- Structural context available
- Literature evidence available