L21R (p.Leu21Arg) variant of SH2D1A (SH2 domain-containing protein 1A)
L21R (p.Leu21Arg) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
L21R (p.Leu21Arg) variant details
- p.Leu21Arg
- rs2059993575
- ClinGen CA414122297
- ClinVar RCV001311403
- Ensembl rs2059993575
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.38
- MetaLR 0.46
- MetaSVM -0.16
- PolyPhen-2 0.96
- SIFT 0.13
- EVE 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available