K45N (p.Lys45Asn) variant of ZRSR2 (Q15696)
K45N (p.Lys45Asn) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K45N (p.Lys45Asn) variant details
- p.Lys45Asn
- gnomAD X-15799885-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.05
- MetaLR 0.38
- MetaSVM -0.42
- CADD 15.40
- PolyPhen-2 0.42
- SIFT 0.45
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available