L10V (p.Leu10Val) variant of IL2RB (P14784)
L10V (p.Leu10Val) in IL2RB (P14784) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- rs57770674
- ClinGen CA10216781
- ClinVar RCV001515583
- UniProt VAR 061186
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.28
- CADD 23.00
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign (in dbSNP:rs57770674)
- UniProt: Benign (in dbSNP:rs57770674)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)