L106V (p.Leu106Val) variant of CASP9 (Caspase-9)
L106V (p.Leu106Val) in CASP9 (Caspase-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L106V (p.Leu106Val) variant details
- p.Leu106Val
- rs2308938
- ClinGen CA614655
- ClinVar RCV000880954
- UniProt VAR 015418
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.07
- CADD 7.60
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs2308938)
- UniProt: Benign (in dbSNP:rs2308938)
- Most common in the HGDP:MBUTI population (allele frequency 1)
- Structural context available
- Literature evidence available