I5N (p.Ile5Asn) variant of ALDH5A1 (P51649)
I5N (p.Ile5Asn) in ALDH5A1 (P51649) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I5N (p.Ile5Asn) variant details
- p.Ile5Asn
- gnomAD 6-24495010-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.19
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available