S9N (p.Ser9Asn) variant of ALDH5A1 (P51649)
S9N (p.Ser9Asn) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S9N (p.Ser9Asn) variant details
- p.Ser9Asn
- gnomAD 6-24495022-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.07
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available