K18N (p.Lys18Asn) variant of SH2D1A (SH2 domain-containing protein 1A)
K18N (p.Lys18Asn) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K18N (p.Lys18Asn) variant details
- p.Lys18Asn
- gnomAD X-124346696-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.38
- MetaLR 0.58
- MetaSVM -0.04
- CADD 23.10
- PolyPhen-2 0.53
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available