K23N (p.Lys23Asn) variant of SLC34A3 (Q8N130)
K23N (p.Lys23Asn) in SLC34A3 (Q8N130) 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.
K23N (p.Lys23Asn) variant details
- p.Lys23Asn
- gnomAD 9-137231771-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- MetaLR 0.03
- MetaSVM -1.01
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available