L149V (p.Leu149Val) variant of ETV5 (ETS translocation variant 5)
L149V (p.Leu149Val) in ETV5 (ETS translocation variant 5) 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 0.20 / 1. The record also includes population frequency data.
L149V (p.Leu149Val) variant details
- p.Leu149Val
- rs78506201
- ClinGen CA2742637
- ClinVar RCV000962064
- 1000Genomes rs78506201
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.06
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)