V60F (p.Val60Phe) variant of COL3A1 (Collagen alpha-1(III) chain)
V60F (p.Val60Phe) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V60F (p.Val60Phe) variant details
- p.Val60Phe
- gnomAD 2-188984858-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.72
- MetaLR 0.71
- MetaSVM 0.60
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available