P29L (p.Pro29Leu) variant of VSIR (Q9H7M9)
P29L (p.Pro29Leu) in VSIR (Q9H7M9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- rs202090521
- ClinGen CA5545500
- ClinVar RCV004485018
- 1000Genomes rs202090521
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.04
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available