Q60H (p.Gln60His) variant of COL5A2 (Collagen alpha-2(V) chain)
Q60H (p.Gln60His) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q60H (p.Gln60His) variant details
- p.Gln60His
- ExAC rs759303686
- TOPMed rs759303686
- gnomAD rs759303686
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.34
- CADD 22.20
- PolyPhen-2 0.48
- SIFT 0.13
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available