P70T (p.Pro70Thr) variant of COL4A4 (Collagen alpha-4(IV) chain)
P70T (p.Pro70Thr) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P70T (p.Pro70Thr) variant details
- p.Pro70Thr
- gnomAD rs1233036321
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.30
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available