L7P (p.Leu7Pro) variant of VSIR (Q9H7M9)
L7P (p.Leu7Pro) in VSIR (Q9H7M9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Retinitis pigmentosa-deafness syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- rs3747862
- ClinGen CA5545531
- ClinVar RCV000988382
- ClinVar RCV004718807
- Benign
- Retinitis pigmentosa-deafness syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.05
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Benign (Retinitis pigmentosa-deafness syndrome; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BASQUE population (allele frequency 0.61)
- Structural context available