V95I (p.Val95Ile) variant of COL5A2 (Collagen alpha-2(V) chain)
V95I (p.Val95Ile) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V95I (p.Val95Ile) variant details
- p.Val95Ile
- TOPMed rs1200990468
- gnomAD rs1200990468
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.09
- CADD 9.17
- PolyPhen-2 0.00
- SIFT 0.75
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available