K32N (p.Lys32Asn) variant of COL1A2 (Collagen alpha-2(I) chain)
K32N (p.Lys32Asn) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K32N (p.Lys32Asn) variant details
- p.Lys32Asn
- gnomAD 7-94398396-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.33
- MetaLR 0.72
- MetaSVM 0.51
- CADD 41.00
- PolyPhen-2 0.50
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available