P49L (p.Pro49Leu) variant of COL3A1 (Collagen alpha-1(III) chain)
P49L (p.Pro49Leu) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P49L (p.Pro49Leu) variant details
- p.Pro49Leu
- ExAC rs775512273
- gnomAD rs775512273
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.59
- MetaLR 0.59
- MetaSVM 0.32
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available