K47= variant of COL4A5 (Collagen alpha-5(IV) chain)
K47= in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; low impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
K47= variant details
- rs1486934440
- NCI-TCGA Cosmic COSV6035
- Variant assessed as somatic; low impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- AlphaMissense 0.91
- MetaLR 0.84
- MetaSVM 0.78
- PolyPhen-2 0.99
- SIFT 0.06
- EVE 0.66
- UniProt: Variant assessed as somatic; low impact.
- Structural context available